Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA215435

Gene: TPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 31884

ClinVar RCV Id: RCV000024580 RCV000036354 RCV000695968 RCV000850515

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018005.1:p.Asp230Asn	CA018280 NM_001018005.2:c.688G>A